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KYAT1 kynurenine aminotransferase 1 [ Homo sapiens (human) ]

Gene ID: 883, updated on 5-Mar-2024

Summary

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Official Symbol
KYAT1provided by HGNC
Official Full Name
kynurenine aminotransferase 1provided by HGNC
Primary source
HGNC:HGNC:1564
See related
Ensembl:ENSG00000171097 MIM:600547; AllianceGenome:HGNC:1564
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GTK; KAT1; KATI; CCBL1
Summary
This gene encodes a cytosolic enzyme that is responsible for the metabolism of cysteine conjugates of certain halogenated alkenes and alkanes. This metabolism can form reactive metabolites leading to nephrotoxicity and neurotoxicity. Increased levels of this enzyme have been linked to schizophrenia. Multiple transcript variants that encode different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in brain (RPKM 2.6), skin (RPKM 1.9) and 25 other tissues See more
Orthologs
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Genomic context

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See KYAT1 in Genome Data Viewer
Location:
9q34.11
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (128832942..128882523, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (141037719..141087270, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (131595221..131644802, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20352 Neighboring gene TBC1 domain family member 13 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:131574071-131574244 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20353 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:131581177-131581742 Neighboring gene KYAT1-SPOUT1 readthrough Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:131590537-131591467 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20354 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29093 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:131592801-131593024 Neighboring gene SPOUT domain containing methyltransferase 1 Neighboring gene endonuclease G Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:131600611-131601111 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:131607420-131607646 Neighboring gene Sharpr-MPRA regulatory region 9337 Neighboring gene Sharpr-MPRA regulatory region 7409 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29094 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20355 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:131647725-131648487 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:131654523-131655130 Neighboring gene leucine rich repeat containing 8 VRAC subunit A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29095 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:131666020-131666192 Neighboring gene uncharacterized LOC101929291 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:131672021-131672804 Neighboring gene Sharpr-MPRA regulatory region 12425 Neighboring gene phytanoyl-CoA dioxygenase domain containing 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:131704025-131704223

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Substrate specificity of human glutamine transaminase K as an aminotransferase and as a cysteine S-conjugate beta-lyase. Cooper AJ, et al. Arch Biochem Biophys, 2008 Jun 1. PMID 18342615, Free PMC Article
  2. Cysteine S-conjugate beta-lyases. Cooper AJ, et al. Amino Acids, 2006 Feb. PMID 16463021
  3. The role of glutamine transaminase K (GTK) in sulfur and alpha-keto acid metabolism in the brain, and in the possible bioactivation of neurotoxicants. Cooper AJ. Neurochem Int, 2004 Jun. PMID 15016471
  4. Cysteine conjugate beta-lyase-dependent biotransformation of the cysteine S-conjugates of the sevoflurane degradation product compound A in human, nonhuman primate, and rat kidney cytosol and mitochondria. Iyer RA, et al. Anesthesiology, 1996 Dec. PMID 8968194
  5. Molecular cloning and expression of cDNAs for rat and human kidney cysteine conjugate beta-lyase. Goldfarb P, et al. Biochem Soc Trans, 1996 May. PMID 8736988

See all (38) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. genetic suppression of glutamine transaminase K (GTK), a key enzyme of the glutaminase II pathway, leads to the complete inhibition of pancreatic tumorigenesis in vivo unveiling GTK as a new metabolic target for cancer therapy
    Title: Upregulation of the Glutaminase II Pathway Contributes to Glutamate Production upon Glutaminase 1 Inhibition in Pancreatic Cancer.
  2. Immunohistochemical analysis revealed the presence of KAT I, II, and III in all examined corneal sections.
    Title: The presence of kynurenine aminotransferases in the human cornea: Evidence from bioinformatics analysis of gene expression and immunohistochemical staining.
  3. CH(3)Hg-S-Cys and Cys-S-Hg-S-Cys are substrates and reversible inhibitors of GTK.
    Title: New insights into the metabolism of organomercury compounds: mercury-containing cysteine S-conjugates are substrates of human glutamine transaminase K and potent inactivators of cystathionine Îł-lyase.
  4. alpha-keto acids generated by transamination/l-amino acid oxidase activity of the two catechol cysteine S-conjugates are unstable
    Title: Substrate specificity of human glutamine transaminase K as an aminotransferase and as a cysteine S-conjugate beta-lyase.
  5. We found elevated cerebellar KAT-1 activities in post-mortem brain samples from schizophrenic versus normal individuals.
    Title: Preliminary evidence for a link between schizophrenia and NMDA-glycine site receptor ligand metabolic enzymes, d-amino acid oxidase (DAAO) and kynurenine aminotransferase-1 (KAT-1).
  6. major biological roles of glutamine transaminase K are to maintain low levels of phenylpyruvate and to close the methionine salvage pathway--REVIEW
    Title: The role of glutamine transaminase K (GTK) in sulfur and alpha-keto acid metabolism in the brain, and in the possible bioactivation of neurotoxicants.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
An atlas of genetic influences on human blood metabolites.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Readthrough KYAT1-SPOUT1

Readthrough gene: KYAT1-SPOUT1, Included gene: SPOUT1

Homology

Clone Names

  • FLJ95217, MGC29624

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cysteine-S-conjugate beta-lyase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables glutamine-phenylpyruvate transaminase activity IEA
Inferred from Electronic Annotation
more info
  
enables kynurenine-oxoglutarate transaminase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables kynurenine-oxoglutarate transaminase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein homodimerization activity IPI
Inferred from Physical Interaction
more info
 PubMed 
enables pyridoxal phosphate binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in L-kynurenine catabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in kynurenine metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in response to bacterium IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
kynurenine--oxoglutarate transaminase 1
Names
beta-lysase, kidney
cysteine conjugate beta lyase 1
cysteine conjugate-beta lyase, cytoplasmic
cysteine conjugate-beta lyase; cytoplasmic (glutamine transaminase K, kyneurenine aminotransferase)
cysteine-S-conjugate beta-lyase
glutamine transaminase K
glutamine--phenylpyruvate transaminase
glutamine-phenylpyruvate aminotransferase
kyneurenine aminotransferase
kynurenine aminotransferase I
kynurenine--oxoglutarate transaminase I
NP_001116143.1
NP_001116144.1
NP_001274319.1
NP_001339917.1
NP_001339918.1
NP_001339919.1
NP_001339920.1
NP_001339921.1
NP_001339922.1
NP_001339923.1
NP_001339924.1
NP_001339925.1
NP_001339926.1
NP_001339927.1
NP_001339928.1
NP_004050.3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001122671.2 → NP_001116143.1  kynurenine--oxoglutarate transaminase 1 isoform a

    See identical proteins and their annotated locations for NP_001116143.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 6-11 all encode the same isoform (a).
    Source sequence(s)
    AK291178, AL441992, BU622726, X82224
    Consensus CDS
    CCDS43884.1
    UniProtKB/Swiss-Prot
    Q16773, Q5T275, Q8N191
    UniProtKB/TrEMBL
    A8K563
    Conserved Domains (1) summary
    PRK08912
    Location:24 → 418
    PRK08912; aminotransferase

  2. NM_001122672.2 → NP_001116144.1  kynurenine--oxoglutarate transaminase 1 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon in the mid-coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a.
    Source sequence(s)
    AL441992, BU622726, DA381449, EL733697, X82224
    Consensus CDS
    CCDS48038.1
    UniProtKB/Swiss-Prot
    Q16773
    Related
    ENSP00000317342.6, ENST00000320665.10
    Conserved Domains (2) summary
    cd00609
    Location:31 → 367
    AAT_like; Aspartate aminotransferase family. This family belongs to pyridoxal phosphate (PLP)-dependent aspartate aminotransferase superfamily (fold I). Pyridoxal phosphate combines with an alpha-amino acid to form a compound called a Schiff base or aldimine ...
    PRK08912
    Location:24 → 368
    PRK08912; hypothetical protein; Provisional

  3. NM_001287390.3 → NP_001274319.1  kynurenine--oxoglutarate transaminase 1 isoform c

    See identical proteins and their annotated locations for NP_001274319.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and CDS, and uses an alternate upstream translation start, compared to variant 1. The resulting protein (isoform c) has a longer N-terminus, compared to isoform a. Variants 4 and 12 both encode the same isoform (c).
    Source sequence(s)
    AL441992, AL672142
    Consensus CDS
    CCDS75915.1
    UniProtKB/TrEMBL
    B7Z4W5
    Related
    ENSP00000399415.2, ENST00000436267.7
    Conserved Domains (1) summary
    cl27741
    Location:118 → 512
    Aminotran_1_2; Aminotransferase class I and II

  4. NM_001352988.2 → NP_001339917.1  kynurenine--oxoglutarate transaminase 1 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6), as well as variants 1, 2, and 7-11, encodes isoform a.
    Source sequence(s)
    AL441992, AL672142
    Consensus CDS
    CCDS43884.1
    UniProtKB/Swiss-Prot
    Q16773, Q5T275, Q8N191
    UniProtKB/TrEMBL
    A8K563
    Conserved Domains (1) summary
    PRK08912
    Location:24 → 418
    PRK08912; aminotransferase

  5. NM_001352989.2 → NP_001339918.1  kynurenine--oxoglutarate transaminase 1 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7), as well as variants 1, 2, 6, and 8-11, encodes isoform a.
    Source sequence(s)
    AL441992, AL672142
    Consensus CDS
    CCDS43884.1
    UniProtKB/Swiss-Prot
    Q16773, Q5T275, Q8N191
    UniProtKB/TrEMBL
    A8K563
    Conserved Domains (1) summary
    PRK08912
    Location:24 → 418
    PRK08912; aminotransferase

  6. NM_001352990.2 → NP_001339919.1  kynurenine--oxoglutarate transaminase 1 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8), as well as variants 1, 2, 6, 7, and 9-11, encodes isoform a.
    Source sequence(s)
    AL441992, AL672142
    Consensus CDS
    CCDS43884.1
    UniProtKB/Swiss-Prot
    Q16773, Q5T275, Q8N191
    UniProtKB/TrEMBL
    A8K563
    Conserved Domains (1) summary
    PRK08912
    Location:24 → 418
    PRK08912; aminotransferase

  7. NM_001352991.2 → NP_001339920.1  kynurenine--oxoglutarate transaminase 1 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9), as well as variants 1, 2, 6-8, 10, and 11, encodes isoform a.
    Source sequence(s)
    AL441992, AL672142
    Consensus CDS
    CCDS43884.1
    UniProtKB/Swiss-Prot
    Q16773, Q5T275, Q8N191
    UniProtKB/TrEMBL
    A8K563
    Conserved Domains (1) summary
    PRK08912
    Location:24 → 418
    PRK08912; aminotransferase

  8. NM_001352992.2 → NP_001339921.1  kynurenine--oxoglutarate transaminase 1 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10), as well as variants 1, 2, 6-9, and 11, encodes isoform a.
    Source sequence(s)
    AL441992, AL672142
    Consensus CDS
    CCDS43884.1
    UniProtKB/Swiss-Prot
    Q16773, Q5T275, Q8N191
    UniProtKB/TrEMBL
    A8K563
    Conserved Domains (1) summary
    PRK08912
    Location:24 → 418
    PRK08912; aminotransferase

  9. NM_001352993.2 → NP_001339922.1  kynurenine--oxoglutarate transaminase 1 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (11), as well as variants 1, 2, and 6-10, encodes isoform a.
    Source sequence(s)
    AL441992
    Consensus CDS
    CCDS43884.1
    UniProtKB/Swiss-Prot
    Q16773, Q5T275, Q8N191
    UniProtKB/TrEMBL
    A8K563
    Conserved Domains (1) summary
    PRK08912
    Location:24 → 418
    PRK08912; aminotransferase

  10. NM_001352994.2 → NP_001339923.1  kynurenine--oxoglutarate transaminase 1 isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (12), as well as variant 4, encodes isoform c.
    Source sequence(s)
    AL441992, AL672142
    Consensus CDS
    CCDS75915.1
    UniProtKB/TrEMBL
    B7Z4W5
    Conserved Domains (1) summary
    cl27741
    Location:118 → 512
    Aminotran_1_2; Aminotransferase class I and II

  11. NM_001352995.2 → NP_001339924.1  kynurenine--oxoglutarate transaminase 1 isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (13), as well as variant 14, encodes isoform d.
    Source sequence(s)
    AL441992, AL672142
    Consensus CDS
    CCDS94502.1
    UniProtKB/TrEMBL
    A0A494C066
    Conserved Domains (1) summary
    cl27741
    Location:117 → 511
    Aminotran_1_2; Aminotransferase class I and II

  12. NM_001352996.2 → NP_001339925.1  kynurenine--oxoglutarate transaminase 1 isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (14), as well as variant 13, encodes isoform d.
    Source sequence(s)
    AL441992, AL672142
    Consensus CDS
    CCDS94502.1
    UniProtKB/TrEMBL
    A0A494C066
    Conserved Domains (1) summary
    cl27741
    Location:117 → 511
    Aminotran_1_2; Aminotransferase class I and II

  13. NM_001352997.2 → NP_001339926.1  kynurenine--oxoglutarate transaminase 1 isoform e

    Status: REVIEWED

    Description
    Transcript Variant: This variant (15), as well as variant 16, encodes isoform e.
    Source sequence(s)
    AL441992, AL672142
    Conserved Domains (1) summary
    cl27741
    Location:58 → 452
    Aminotran_1_2; Aminotransferase class I and II

  14. NM_001352998.2 → NP_001339927.1  kynurenine--oxoglutarate transaminase 1 isoform e

    Status: REVIEWED

    Description
    Transcript Variant: This variant (16), as well as variant 15, encodes isoform e.
    Source sequence(s)
    AL441992, AL672142
    Conserved Domains (1) summary
    cl27741
    Location:58 → 452
    Aminotran_1_2; Aminotransferase class I and II

  15. NM_001352999.2 → NP_001339928.1  kynurenine--oxoglutarate transaminase 1 isoform f

    Status: REVIEWED

    Source sequence(s)
    AL441992, AL672142
    Conserved Domains (1) summary
    cl27741
    Location:3 → 360
    Aminotran_1_2; Aminotransferase class I and II

  16. NM_004059.5 → NP_004050.3  kynurenine--oxoglutarate transaminase 1 isoform a

    See identical proteins and their annotated locations for NP_004050.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the isoform a. Variants 1, 2, and 6-11 all encode the same isoform (a).
    Source sequence(s)
    AL441992, BI755163, DA381449, X82224
    Consensus CDS
    CCDS43884.1
    UniProtKB/Swiss-Prot
    Q16773, Q5T275, Q8N191
    UniProtKB/TrEMBL
    A8K563
    Related
    ENSP00000302227.3, ENST00000302586.8
    Conserved Domains (1) summary
    PRK08912
    Location:24 → 418
    PRK08912; aminotransferase

RNA

  1. NR_109829.3 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses an alternate splice site at an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AL441992, AL672142
    Related
    ENST00000462722.5

  2. NR_148224.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL441992, AL672142

  3. NR_148225.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL441992
    Related
    ENST00000483599.5

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    128832942..128882523 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    141037719..141087270 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q16773.1 GenPept UniProtKB/Swiss-Prot:Q16773

Gene LinkOut

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